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NALCN

sodium leak channel, non-selective

gene with protein productOMIM: 6115495 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)5
Distal arthrogryposis type 1ORPHA:1146
→
Sheldon-Hall syndromeORPHA:1147
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Freeman-Sheldon syndromeORPHA:2053
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Congenital limbs-face contractures-hypotonia-developmental delay syndromeORPHA:562528
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Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiencyORPHA:700336
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Данные: Orphadata (CC-BY-4.0)